Ring chromosome 7

Summary

Ring chromosome 7 (MONDO:0015441) is a disease with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 1
• Phenotypes (HPO): 58

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		18	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

58 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000047	Hypospadias	Very frequent (80-99%)
HP:0000135	Hypogonadism	Very frequent (80-99%)
HP:0000160	Narrow mouth	Very frequent (80-99%)
HP:0000233	Thin vermilion border	Very frequent (80-99%)
HP:0000248	Brachycephaly	Very frequent (80-99%)
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000271	Abnormality of the face	Very frequent (80-99%)
HP:0000272	Malar flattening	Very frequent (80-99%)
HP:0000286	Epicanthus	Very frequent (80-99%)
HP:0000294	Low anterior hairline	Very frequent (80-99%)
HP:0000322	Short philtrum	Very frequent (80-99%)
HP:0000385	Small earlobe	Very frequent (80-99%)
HP:0000426	Prominent nasal bridge	Very frequent (80-99%)
HP:0000431	Wide nasal bridge	Very frequent (80-99%)
HP:0000494	Downslanted palpebral fissures	Very frequent (80-99%)
HP:0000601	Hypotelorism	Very frequent (80-99%)
HP:0000932	Abnormality of the posterior cranial fossa	Very frequent (80-99%)
HP:0001270	Motor delay	Very frequent (80-99%)
HP:0001488	Bilateral ptosis	Very frequent (80-99%)
HP:0002120	Cerebral cortical atrophy	Very frequent (80-99%)
HP:0002553	Highly arched eyebrow	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0004425	Flat forehead	Very frequent (80-99%)
HP:0007687	Unilateral ptosis	Very frequent (80-99%)
HP:0008846	Severe intrauterine growth retardation	Very frequent (80-99%)
HP:0009088	Speech articulation difficulties	Very frequent (80-99%)
HP:0009899	Prominent crus of helix	Very frequent (80-99%)
HP:0011344	Severe global developmental delay	Very frequent (80-99%)
HP:0012368	Flat face	Very frequent (80-99%)
HP:0001000	Abnormality of skin pigmentation	Frequent (30-79%)
HP:0001238	Slender finger	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0003196	Short nose	Frequent (30-79%)
HP:0009933	Narrow naris	Frequent (30-79%)
HP:0030148	Heart murmur	Frequent (30-79%)
HP:0000034	Hydrocele testis	Occasional (5-29%)
HP:0000175	Cleft palate	Occasional (5-29%)
HP:0000303	Mandibular prognathia	Occasional (5-29%)
HP:0000329	Facial hemangioma	Occasional (5-29%)
HP:0000463	Anteverted nares	Occasional (5-29%)
HP:0000486	Strabismus	Occasional (5-29%)
HP:0000565	Esotropia	Occasional (5-29%)
HP:0000954	Single transverse palmar crease	Occasional (5-29%)
HP:0000957	Cafe-au-lait spot	Occasional (5-29%)
HP:0001317	Abnormal cerebellum morphology	Occasional (5-29%)
HP:0002857	Genu valgum	Occasional (5-29%)
HP:0002861	Melanoma	Occasional (5-29%)
HP:0004619	Lumbar kyphoscoliosis	Occasional (5-29%)
HP:0007481	Hyperpigmented nevi	Occasional (5-29%)
HP:0200055	Small hand	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	ring chromosome 7
Mondo ID	MONDO:0015441
MeSH	C537813
Orphanet	1449
NCIT	C121986
SNOMED CT	765489006
UMLS	C2931622
MedGen	419454
GARD	0001345
Is cancer (heuristic)	no

Also known as: chromosome 7 ring · R7 · Ring 7 · Ring chromosome type 7 · rose cluster 7

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 7 disorder › ring chromosome 7

Related subtypes (5): mosaic trisomy 7, partial deletion of chromosome 7, partial duplication of chromosome 7, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, paternal uniparental disomy of chromosome 7

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1703560	Single allele	FEZF1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FEZF1	Orphanet:478	Kallmann syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FEZF1	HGNC:22788	ENSG00000128610	A0PJY2	Fez family zinc finger protein 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FEZF1	Fez family zinc finger protein 1	Transcription repressor.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FEZF1	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
caudate nucleus	1
hypothalamus	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FEZF1	52	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, hypothalamus, caudate nucleus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FEZF1	939

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FEZF1	A0PJY2	56.91

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
forebrain anterior/posterior pattern specification	1	4213.0×	0.002	FEZF1
cell dedifferentiation	1	2808.7×	0.002	FEZF1
interneuron migration	1	1532.0×	0.002	FEZF1
olfactory bulb development	1	766.0×	0.004	FEZF1
central nervous system neuron differentiation	1	601.9×	0.004	FEZF1
regulation of neurogenesis	1	401.2×	0.005	FEZF1
positive regulation of neuron differentiation	1	198.3×	0.008	FEZF1
axon guidance	1	90.6×	0.015	FEZF1
negative regulation of cell population proliferation	1	42.1×	0.029	FEZF1
positive regulation of DNA-templated transcription	1	27.9×	0.039	FEZF1
regulation of transcription by RNA polymerase II	1	11.7×	0.086	FEZF1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FEZF1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	FEZF1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FEZF1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.